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Genotype-phenotype correlations
Original research
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations

Authors

  • Che-Yuan Kuo Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan Department of Ophthalmology, National Yang Ming Chiao Tung University, Taipei, Taiwan PubMed articlesGoogle scholar articles
  • Ming-Yi Chung Department of Life Sciences & Institute of Genome Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan PubMed articlesGoogle scholar articles
  • Shih-Jen Chen Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan Department of Ophthalmology, National Yang Ming Chiao Tung University, Taipei, Taiwan PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Shih-Jen Chen, Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan; sjchen{at}vghtpe.gov.tw; mychung{at}nycu.edu.tw
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Citation

Kuo C, Chung M, Chen S
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
Journal of Medical Genetics 2023;60:859-865.

Publication history

  • Received September 4, 2022
  • Accepted January 2, 2023
  • First published January 23, 2023.
Online issue publication 
October 18, 2023

Article Versions

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.